Diagnosis of infertility in women – what tests should be performed?

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The desire to have children is natural for most people. Unfortunately, not every couple can realize their dream of a child naturally. It often turns out that women’s health problems are an obstacle to having children. Therefore, if there are problems with becoming pregnant, it is worthwhile to perform a thorough examination to check the causes of the problems so that you can start treatment.

What are the causes of female fertility problems?

Women’s infertility can be associated with many health problems. Among the potential causes, it is worth mentioning, first of all:

1. menstrual disorders;
2. endometriosis;
3. previous operations – including appendicitis, but also other surgical procedures performed in the area of ​​the smaller pelvis. These procedures can cause adhesions and even disorders of the fallopian tubes;
4. infections;
5. fibroids;
6. pain during intercourse;
7. adnexitis;
8. cysts;
9. congenital defects in the structure of the reproductive system;
10. severe stress;
11. incorrect diet;
12. hormonal disorders.

What is secondary infertility?

Infertility can also affect couples who already have one or more children. It is then called secondary infertility. In the diagnosis of disorders responsible for the development of secondary infertility, much attention is paid to the obstetric past, the course of previous births, possible complications, ectopic pregnancies, miscarriages and even the development of children.

It should be remembered that each woman seeking help at an infertility clinic is treated very individually. Not every patient will undergo invasive tests. There are no action schemes here, and in approx. 20% of cases the cause cannot be determined. It is best to look for the causes of infertility in both partners.

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What are the indications for the diagnosis of infertility in women?

Usually, the diagnosis of infertility is recommended to patients who, despite attempts, did not get pregnant within one year of starting the efforts. However, there are situations where earlier diagnostics is recommended, which means that the tests start a year ago. This is recommended for:

1. the woman’s age exceeds 35 years – in the case of women after the age of 35, diagnostics should begin after 6 months of trying to get pregnant;
2. menstrual disorders – rare periods appear or the menstruation stops completely;
3. suspected defects in the structure of the reproductive organs;
4. also overlapping male infertility.

What tests should be performed before starting infertility diagnostics?

Before the doctor decides to start fertility treatment, he should first perform tests to exclude other contraindications for pregnancy. The most important thing is to test for hypothyroidism, adrenal hormone deficiency and hyperprolactinemia.

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What does the diagnosis of infertility in women begin with?

A very important stage in the diagnosis of infertility in women is a medical interview, which is carried out by the doctor at the first visit. Without a detailed medical history, it would be much more difficult for the doctor to determine the next steps. However, be prepared for the fact that the questions will be very insightful and intimate. The doctor may, for example, ask about our menstrual cycle, frequency of intercourse, medical history, miscarriages, birth defects or genetic diseases (also in the family).

The more information we provide to the doctor, the easier it will be for him to quickly determine the initial causes of infertility. That is why it is not worth being ashamed and hiding from the doctor information on, for example, the number of partners, risky sexual behavior or strong infections.

Ovulation monitoring and female infertility

The doctor needs to know the woman’s menstrual cycle thoroughly. However, information collected from the patient is not enough. The doctor may order, for example, 2-3 vaginal ultrasound examinations and tests of hormone levels (1-2 times). By compiling the results of these tests, the doctor will determine whether ovulation is occurring and when the fertile days appear, and when ovulation occurs. The ultrasound examination should be performed at the beginning of the cycle, and then on the 12-14th day of the cycle.

When the examination shows that anovulation is absent, the doctor may recommend the use of ovulation stimulating drugs. Medicines can be taken in the form of tablets or injections. The main thing is to take them at the beginning of the cycle.

If your periods are regular, you don’t need to check your prolactin levels or do a metoclopramide test. However, if a woman’s cycles are irregular (rare or frequent), it is worth checking the concentration:

1. AMH;
2. androgens;
3. prolatiny;
4. TSH.

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Hormonal tests and female infertility

Hormonal tests play a very important role in the treatment of infertility. An important study is:

1. blood AMH level test – on the basis of the concentration of this hormone, it is possible to determine the condition of the ovarian reserve in a woman. The term is used to describe the number of follicles a woman has, so that a doctor can assess a woman’s fertility. Importantly, this test can be performed at any stage of the cycle, because the level of this hormone is constant, regardless of the contraception or hormone therapy used. In a situation where the test result is very low, it may be an indication to use the in vitro method;
2. the concentration of the FSH hormone – this hormone is produced by the pituitary gland. The indications for its implementation are irregular cycles, which may indicate a polycystic ovary syndrome (then the LH level is also checked) or premature decay of ovarian activity (then the E2 level is also checked);
3. estradiol concentration – the test should be performed in the follicular and perovulatory phase, i.e. around 2-3 / 4-5 days and 13-14 days of the cycle;
4. LH (luteinizing hormone) level – the test is performed to check the efficiency of the hypothalamic pituitary system. The test should be performed preferably on the 6-7 and 13-14 days of the cycle;
5. progesterone concentration – the test is performed 7 days after ovulation;
6. Corpus luteum efficiency test and ovulation assessment – the test is performed three times between days 20-23 of the cycle;
7. prolactin concentration – the test is performed on the 21st day of the cycle;
8. TSH, FT3, FT4 level test – tests can be performed on any day of the cycle;
9. test of progesterone level, assessment of ovulation and corpus luteum efficiency – the test is performed three times between the 20-23 day of the cycle;
10. androgen levels – the test can be performed on any day of the cycle. The concentration of testosterone, androstenedione and dehydroepiandrosterone is assessed.

In addition, if menstruation is irregular or absent, progesterone testing should be performed, and in some cases sex steroid binding protein, inhibin and AMH levels should be checked. If a woman experiences recurrent miscarriages, a blood test for thrombophylls and antiphospholipid syndrome should be performed. It’s also a good idea to check your cortisol and glucose levels or do a glucose load test.

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Examination of the genital tract and female infertility

Various defects in the structure of the uterine cavity, obstruction of the fallopian tubes, or changes in the epithelium, e.g. polyps or fibroids, are often behind female infertility. In order to diagnose them, the following are carried out:

1. hysteroscopy – the examination is performed to assess the structure of the uterine cavity, and in addition, changes such as fibroids, polyps and adhesions can be removed during the examination;
2. sono-HSG – during the test, saline is administered through a catheter to the cervix, uterine cavity and fallopian tubes. This is how the patency of the genital tract is checked. In some cases, the test also allows the fallopian tubes to be opened, thanks to which the cause of infertility, i.e. sticky fallopian tubes, is removed;
3. lobe biopsy of the endometrium – the test is most often performed for diagnostic purposes in the case of dangerous-looking changes in the cervical mucosa and the uterine cavity. In case of infertility, the test should be performed between the 22nd and 24th day of the cycle;
4. colposcopy – the examination consists in enlarging (3,47 times) the disc of the cervix, which enables the assessment of the condition of the epithelium in the vaginal part of the cervix. In addition, if the doctor is concerned about something, he can immediately take the material (epithelial sample);
5. cytology – this is a diagnostic test that detects precancerous and neoplastic conditions in the cervix, which may also stand in the way of pregnancy;
6. diagnostic laparoscopy – the examination diagnoses endometriosis, assesses the structure and arrangement of the pelvic organs, the patency of the fallopian tubes and the place of adhesions;
7. PCT test – this is a study of cervical mucus. They should be performed about 12 days after sexual intercourse. The test measures the degree of sperm activity that is visible in the cervical fluid. On this basis, it is possible to assess the couple’s chance of becoming pregnant. Before the test is performed, the man’s sperm should be tested;
8. hysterosalpingosonography (HyCoSy) – a modern test that allows for ultrasound evaluation of the uterine cavity and the patency of the fallopian tubes. The test requires the administration of a contrast agent;
9. Fertiloscopy – a new, comprehensive examination that allows to diagnose female infertility. This method uses many different methods that allow the examination of the uterine cavity, the patency of the fallopian tubes, the diagnosis of ovarian endometriosis and the peritoneum of the abdominal cavity. These methods include transvaginal laparoscopy (hydrolaparoscopy), transcervical chromotubation, microsalpingoscopy and minihysteroscopy. The test can be used in place of laparoscopy;
10. hysterosalpingosonography – this is an alternative to the standard HSG examination.

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Bacteriological tests and female infertility

When diagnosing infertility in women, it is also worth looking for the causes of possible infections, i.e. TORCH team. This syndrome includes rubella, toxoplasmosis, herper, cytomegaly, which are the most common causes of infection. These infections weaken the immune system, which is common in people of childbearing age. Pathogenic microorganisms appearing in TORCH syndrome have a great influence on fertility. They cause, among others obstruction of the fallopian tubes, premature delivery, and even fetal death in the perinatal period.

In addition, Chlamydia, Mycoplasma and Ueraplasma spp. Also have negative effects on fertility.

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Immunological tests and female infertility

Infertility may also be related to immune factors. They can affect the entire reproductive process, from the formation of reproductive cells to the implantation of the embryo.

The main immune factors that influence fertility are:

1. anti-sperm antibodies – they are found in the cervical mucus in women and in the parenchyma of men. They affect the proper functioning of sperm;
2. antiphospholipid antibodies – they cause disturbances in the process of implantation and early development of the embryo as well as disturbances in the production of placental hormones;
3. anti-ovarian antibodies – they affect the transparent ovum and gonadotropin receptors, anti-endometrial antibodies and any other anti-organ antibodies, as well as lymphocytes and cytokines.

These tests are usually performed in women who have had a miscarriage.

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Genetic research and female infertility

Genetic tests are performed when there is a suspicion of genetic causes of infertility. The karyotype test enables the detection of changes and abnormalities in the structure or number of chromosomes. The main indication for genetic testing is a thorough interview and analysis of the couple’s genetic background.

The indications for research are:

1. congenital hypogonadotrophic hypogonadism,
2. primary amenorrhea due to non-working ovaries,
3. premature termination of the work of the ovaries,
4. an abnormality in the development of the genital organs,
5. abnormal development of tertiary sex characteristics,
6. congenital morphological changes in body structure and recurrent miscarriages.

What are the most common indications for determining a patient’s karyotype?

The indication for the determination of the karyotype is:

1. lack of sperm production in the man (Klinefelter syndrome, a genetic disease of men);
2. genetic defects found in a deceased child or fetus;
3. diagnosis of chromosomal aberration in prenatal tests;
4. no apparent causes of infertility;
5. abnormalities in the structure of the genitals or both;
6. structural aberration that occurs in the family.

Tests should also be performed in women with primary or secondary amenorrhea, premature menopause, or growth failure of unknown origin. In addition, they should be performed in women with recessive disease associated with the X chromosome. It is also worth referring women who have had two or more miscarriages.

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